| 基因名 | 突变 |
|---|---|
| WDR54(NM_032118,WD repeat domain 54,334aa) | g.2:74652086C>T,c.619C>T,p.R207C |
| WDR54(NM_032118,WD repeat domain 54,334aa) | g.2:74651047G>A,c.472G>A,p.E158K |
| WDR53(NM_182627,WD repeat domain 53,358aa) | g.3:196288246G>A,c.101C>T,p.T34M |
| WDR53(NM_182627,WD repeat domain 53,358aa) | g.3:196281263C>T,c.896G>A,p.G299D |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113146130T>C,c.157A>G,p.K53E |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113145118T>A,c.260A>T,p.Q87L |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113145017A>G,c.361T>C,p.F121L |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113127991C>A,c.852G>T,p.K284N |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113120127T>C,c.1334A>G,p.N445S |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113119440C>T,c.1426G>A,p.V476M |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113119409G>A,c.1457C>T,p.A486V |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113118847C>A,c.1475G>T,p.C492F |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113118838C>T,c.1484G>A,p.R495Q |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113115543C>G,c.1601G>C,p.G534A |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113098217G>A,c.2234C>T,p.P745L |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113085143T>C,c.2458A>G,p.M820V |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113084912T>C,c.2689A>G,p.M897V |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113082087G>A,c.2839C>T,p.R947W |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113082043A>T,c.2883T>A,p.N961K |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113060745C>T,c.3283G>A,p.E1095K |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113052357T>C,c.3511A>G,p.M1171V |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113052314G>C,c.3554C>G,p.P1185R |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113049270T>G,c.3861A>C,p.K1287N |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113049270T>A,c.3861A>T,p.K1287N |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113049189A>T,c.3942T>A,p.D1314E |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113045325G>A,c.4483C>T,p.R1495W |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113023899G>A,c.4859C>T,p.P1620L |
| WDR52(NM_001164496,WD repeat domain 52,1854aa) | g.3:113022870T>C,c.4970A>G,p.H1657R |